List of variants reported as pathogenic for Dilatation; Cerebral calcification; Interstitial pneumonitis; Cirrhosis of liver by Institute of Human Genetics,Klinikum rechts der Isar

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Total variants: 5

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HGVS	dbSNP
NM_005687.5(FARSB):c.1202G>A (p.Arg401Gln)	rs1553553086
NM_005687.5(FARSB):c.1381A>C (p.Thr461Pro)	rs1396171148
NM_005687.5(FARSB):c.226T>C (p.Cys76Arg)	rs1419129874
NM_005687.5(FARSB):c.755T>C (p.Phe252Ser)	rs1466642025
NM_005687.5(FARSB):c.784A>G (p.Lys262Glu)	rs1553554543

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